Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Smurf2'

698888

Institutional Source

Beutler Lab

Gene Symbol

Smurf2

Ensembl Gene

ENSMUSG00000018363

Gene Name

SMAD specific E3 ubiquitin protein ligase 2

Synonyms

2810411E22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106710892-106811541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106759463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 78 (S78C)

Ref Sequence

ENSEMBL: ENSMUSP00000090177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092517] [ENSMUST00000103067] [ENSMUST00000139297] [ENSMUST00000167787]

AlphaFold

A2A5Z6

Predicted Effect

probably damaging
Transcript: ENSMUST00000092517
AA Change: S78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090177
Gene: ENSMUSG00000018363
AA Change: S78C

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103067
AA Change: S65C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099356
Gene: ENSMUSG00000018363
AA Change: S65C

Domain	Start	End	E-Value	Type
C2	13	103	1e-6	SMART
WW	145	177	1.96e-11	SMART
WW	239	271	2.47e-8	SMART
WW	285	317	4.97e-13	SMART
low complexity region	328	338	N/A	INTRINSIC
HECTc	399	735	1.75e-165	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139297

Predicted Effect

probably damaging
Transcript: ENSMUST00000167787
AA Change: S78C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129269
Gene: ENSMUSG00000018363
AA Change: S78C

Domain	Start	End	E-Value	Type
C2	13	116	1.51e-15	SMART
WW	158	190	1.96e-11	SMART
WW	252	284	2.47e-8	SMART
WW	298	330	4.97e-13	SMART
low complexity region	341	351	N/A	INTRINSIC
HECTc	412	748	1.75e-165	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele occasionally exhibit kinked or looped tails and abnormal vertebrae. Mice homozygous or heterozygous for a gene trap allele exhibit increased tumor incidence and delayed cellular senescence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Anapc4	C	T	5: 53,007,994 (GRCm39)	T391I	possibly damaging	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bmi1	T	C	2: 18,689,152 (GRCm39)	S279P	probably benign	Het
Bptf	T	G	11: 106,946,124 (GRCm39)	S2372R	probably damaging	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rgs12	T	A	5: 35,123,165 (GRCm39)	M316K	probably damaging	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Ugt8a	T	C	3: 125,661,130 (GRCm39)	H454R	probably damaging	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	probably damaging	Het

Other mutations in Smurf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Smurf2	APN	11	106,743,462 (GRCm39)	missense	probably benign	0.17
IGL00980:Smurf2	APN	11	106,726,921 (GRCm39)	missense	probably damaging	1.00
IGL01346:Smurf2	APN	11	106,721,741 (GRCm39)	splice site	probably benign
IGL02016:Smurf2	APN	11	106,713,504 (GRCm39)	missense	probably damaging	1.00
IGL02937:Smurf2	APN	11	106,736,873 (GRCm39)	missense	probably damaging	1.00
IGL03136:Smurf2	APN	11	106,721,874 (GRCm39)	missense	probably benign	0.38
R0513:Smurf2	UTSW	11	106,726,931 (GRCm39)	missense	probably benign	0.22
R1171:Smurf2	UTSW	11	106,743,444 (GRCm39)	missense	possibly damaging	0.80
R1459:Smurf2	UTSW	11	106,743,333 (GRCm39)	missense	possibly damaging	0.78
R1687:Smurf2	UTSW	11	106,726,896 (GRCm39)	splice site	probably null
R1697:Smurf2	UTSW	11	106,715,514 (GRCm39)	missense	possibly damaging	0.76
R1706:Smurf2	UTSW	11	106,715,573 (GRCm39)	missense	probably damaging	1.00
R2064:Smurf2	UTSW	11	106,762,374 (GRCm39)	missense	probably damaging	1.00
R2072:Smurf2	UTSW	11	106,732,595 (GRCm39)	missense	probably benign	0.00
R2433:Smurf2	UTSW	11	106,759,490 (GRCm39)	missense	probably benign	0.06
R5250:Smurf2	UTSW	11	106,747,005 (GRCm39)	critical splice donor site	probably null
R5531:Smurf2	UTSW	11	106,743,389 (GRCm39)	missense	possibly damaging	0.47
R5835:Smurf2	UTSW	11	106,726,974 (GRCm39)	missense	probably damaging	1.00
R5966:Smurf2	UTSW	11	106,766,727 (GRCm39)	missense	possibly damaging	0.78
R6093:Smurf2	UTSW	11	106,759,449 (GRCm39)	missense	possibly damaging	0.75
R6230:Smurf2	UTSW	11	106,759,330 (GRCm39)	splice site	probably null
R6373:Smurf2	UTSW	11	106,724,595 (GRCm39)	missense	probably damaging	1.00
R7011:Smurf2	UTSW	11	106,724,610 (GRCm39)	missense	probably benign	0.16
R7335:Smurf2	UTSW	11	106,736,911 (GRCm39)	missense	possibly damaging	0.52
R7472:Smurf2	UTSW	11	106,726,921 (GRCm39)	missense	probably damaging	1.00
R7851:Smurf2	UTSW	11	106,721,752 (GRCm39)	missense	probably damaging	1.00
R8246:Smurf2	UTSW	11	106,721,870 (GRCm39)	missense	probably benign	0.02
R8319:Smurf2	UTSW	11	106,715,578 (GRCm39)	missense	probably damaging	1.00
R8739:Smurf2	UTSW	11	106,743,322 (GRCm39)	nonsense	probably null
R9329:Smurf2	UTSW	11	106,743,424 (GRCm39)	missense	probably benign	0.00
R9447:Smurf2	UTSW	11	106,715,548 (GRCm39)	missense	probably damaging	1.00
RF002:Smurf2	UTSW	11	106,743,413 (GRCm39)	missense	probably benign	0.22
Z1176:Smurf2	UTSW	11	106,762,355 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAACTTAAGTTTTGGACACCTAC -3'
(R):5'- GTCTCTGAATGACATTCCCAAACC -3'

Sequencing Primer
(F):5'- ACAACCAGTGTCCTTGAG -3'
(R):5'- TCCCAAACCCTAAAATAGCTTTTTCG -3'

Posted On

2022-02-07